Gene table of BLOC1S6 : biogenesis of lysosomal organelles complex 1 subunit 6

Gene-disease associations table

Disease ID	Disease name	Source of annotation with BLOC1S6	OMIM link	Number of associated genes	genes
PS203300	HERMANSKY-PUDLAK SYNDROME	ClinVar, OMIM	link to OMIM	9	BLOC1S6, HPS5, HPS3, HPS6, AP3B1, DTNBP1, BLOC1S3, HPS1, HPS4

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Membrane Trafficking	R-HSA-199991	5.26
trans-Golgi Network Vesicle Budding	R-HSA-199992	6.85
Golgi Associated Vesicle Biogenesis	R-HSA-432722	7.23
Clathrin derived vesicle budding	R-HSA-421837	6.85
Vesicle-mediated transport	R-HSA-5653656	4.33

Associated GO terms for Molecular function

GO term	GO ID	GO IC
cytoskeletal protein binding	GO:0008092	3.02
SNARE binding	GO:0000149	4.87
actin filament binding	GO:0051015	4.93
actin binding	GO:0003779	3.74
macromolecular complex binding	GO:0044877	2.61
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46
protein complex binding	GO:0032403	3.09
syntaxin binding	GO:0019905	5.19
protein dimerization activity	GO:0046983	2.72
identical protein binding	GO:0042802	2.63
protein homodimerization activity	GO:0042803	3.16